Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
neuromuscular junction disease (DOID:439)
Annotations: Rat: (80) Mouse: (78) Human: (87) Chinchilla: (71) Bonobo: (74) Dog: (76) Squirrel: (73) Pig: (70)
Parent Terms Term With Siblings Child Terms
Charcot-Marie-Tooth disease +   
chronic fatigue syndrome  
Cyclic Vomiting Syndrome with Neuromuscular Disease 
Cyprus Facial Neuromusculoskeletal Syndrome 
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 
GSD IV, Neuromuscular Form, Childhood  
GSD IV, Neuromuscular Form, Congenital  
GSD IV, Neuromuscular Form, Fatal Perinatal 
locked-in syndrome 
motor neuron disease +   
muscular disease +   
neuromuscular junction disease +   
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2  
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3  
Stiff-Person syndrome  

Synonyms
Exact Synonyms: Neuromuscular Junction Disorder ;   Neuromuscular Junction Disorders ;   Neuromuscular Junction Toxic Disorders ;   Neuromuscular Transmission Disorder ;   Neuromuscular Transmission Disorders ;   neuromuscular junction diseases
Primary IDs: MESH:D020511 ;   RDO:0005039
Definition Sources: MESH:D020511, http://en.wikipedia.org/wiki/Neuromuscular_junction_disease

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.